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FAM149A family with sequence similarity 149 member A [ Homo sapiens (human) ]

Gene ID: 25854, updated on 5-Mar-2024

Summary

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Official Symbol
FAM149Aprovided by HGNC
Official Full Name
family with sequence similarity 149 member Aprovided by HGNC
Primary source
HGNC:HGNC:24527
See related
Ensembl:ENSG00000109794 AllianceGenome:HGNC:24527
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MST119; MSTP119
Expression
Broad expression in kidney (RPKM 4.2), liver (RPKM 2.3) and 22 other tissues See more
Orthologs
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Genomic context

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Location:
4q35.1
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (186104704..186175337)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (189445101..189515714)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (187025858..187096491)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:186948264-186949463 Neighboring gene RNA, U4 small nuclear 64, pseudogene Neighboring gene toll like receptor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15857 Neighboring gene uncharacterized LOC124900171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187064906-187065406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187065407-187065907 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:187069874-187071073 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:187071092-187071287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187079637-187080136 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:187091342-187092541 Neighboring gene ribosomal protein SA pseudogene 70 Neighboring gene LTO1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22267 Neighboring gene uncharacterized LOC651430 Neighboring gene cytochrome P450 family 4 subfamily V member 2 Neighboring gene kallikrein B1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A Preliminary Genome-Wide Association Study of Acute Mountain Sickness Susceptibility in a Group of Nepalese Pilgrims Ascending to 4380 m. MacInnis MJ, et al. High Alt Med Biol, 2015 Dec. PMID 26600424
  2. Whole exome sequencing identified FAM149A as a plausible causative gene for congenital hereditary endothelial dystrophy, affecting Nrf2-Antioxidant signaling upon oxidative stress. Zhang J, et al. Free Radic Biol Med, 2021 Sep. PMID 34303830
  3. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. Yeung ML, et al. J Biol Chem, 2009 Jul 17. PMID 19460752, Free PMC Article
  4. TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile. Dendoncker K, et al. Proc Natl Acad Sci U S A, 2019 Jun 25. PMID 31182584, Free PMC Article
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Whole exome sequencing identified FAM149A as a plausible causative gene for congenital hereditary endothelial dystrophy, affecting Nrf2-Antioxidant signaling upon oxidative stress.
    Title: Whole exome sequencing identified FAM149A as a plausible causative gene for congenital hereditary endothelial dystrophy, affecting Nrf2-Antioxidant signaling upon oxidative stress.
  2. In total, 270,389 single nucleotide polymorphisms passed quality control, and 4 SNPs in the FAM149A gene were associated with Acute Mountain Sickness; however, in the validation cohorts, FAM149A was not associated with the presence or severity of AMS.
    Title: A Preliminary Genome-Wide Association Study of Acute Mountain Sickness Susceptibility in a Group of Nepalese Pilgrims Ascending to 4380 m.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of family with sequence similarity 149, member A (FAM149A) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp564J102

General protein information

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Preferred Names
protein FAM149A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001006655.3 → NP_001006656.1  protein FAM149A isoform 1

    See identical proteins and their annotated locations for NP_001006656.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (1).
    Source sequence(s)
    AC110771, AF173894, BC142992, BU609191, CD516421
    Consensus CDS
    CCDS34117.1
    UniProtKB/TrEMBL
    B9EGU9
    Related
    ENSP00000424380.1, ENST00000514153.5
    Conserved Domains (1) summary
    pfam12516
    Location:2 → 66
    DUF3719; Protein of unknown function (DUF3719)

  2. NM_001350178.1 → NP_001337107.1  protein FAM149A isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter by an amino acid, compared to isoform 1. Variants 3 and 4 both encode the same isoform (2).
    Source sequence(s)
    AK309233, BC142992, BC144411, BU609191, CD516421
    UniProtKB/TrEMBL
    B7ZMB5
    Conserved Domains (1) summary
    pfam12516
    Location:2 → 66
    DUF3719; Protein of unknown function (DUF3719)

  3. NM_001350179.1 → NP_001337108.1  protein FAM149A isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter by an amino acid, compared to isoform 1. Variants 3 and 4 both encode the same isoform (2).
    Source sequence(s)
    AK309233, BC142992, BC144411, BU609191, CD516421, DA159632
    UniProtKB/TrEMBL
    B7ZMB5
    Conserved Domains (1) summary
    pfam12516
    Location:2 → 66
    DUF3719; Protein of unknown function (DUF3719)

  4. NM_001367768.3 → NP_001354697.1  protein FAM149A isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, uses multiple alternate splice sites, and extends the 5' coding region compared to variant 1. It encodes isoform 3 which is longer than isoform 1.
    Source sequence(s)
    AC104070, AC110771
    Consensus CDS
    CCDS93680.1
    UniProtKB/Swiss-Prot
    A5PLN7, B5MDB8, Q2TAN6, Q7Z2S5, Q9Y4T9
    UniProtKB/TrEMBL
    A0A0A0MRZ3
    Related
    ENSP00000374005.7, ENST00000389354.7

  5. NM_001395294.1 → NP_001382223.1  protein FAM149A isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC104070, AC110771
    UniProtKB/Swiss-Prot
    A5PLN7, B5MDB8, Q2TAN6, Q7Z2S5, Q9Y4T9
    Related
    ENSP00000516649.1, ENST00000706927.1
    Conserved Domains (1) summary
    PHA03247
    Location:18 → 144
    PHA03247; large tegument protein UL36; Provisional

  6. NM_015398.4 → NP_056213.1  protein FAM149A isoform 1

    See identical proteins and their annotated locations for NP_056213.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer isoform (1). Variants 1 and 2 both encode the same isoform (1).
    Source sequence(s)
    AC110771, AF173894, BC110816, BU609191
    Consensus CDS
    CCDS34117.1
    UniProtKB/TrEMBL
    B9EGU9
    Related
    ENSP00000227065.4, ENST00000227065.8
    Conserved Domains (1) summary
    pfam12516
    Location:2 → 66
    DUF3719; Protein of unknown function (DUF3719)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    186104704..186175337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    189445101..189515714
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A5PLN7.2 GenPept UniProtKB/Swiss-Prot:A5PLN7

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